Literature DB >> 20101702

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.

Ying S Zou1, Stephanie Newton, Jeff M Milunsky.   

Abstract

Mesh:

Year:  2010        PMID: 20101702     DOI: 10.1002/ajmg.a.33266

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish.

Authors:  I Balikova; K Devriendt; J-P Fryns; J R Vermeesch
Journal:  Mol Syndromol       Date:  2011-05-18
  1 in total

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